Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.D315E
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EGLN1

NM_022051.3:p.D315E

Associated Papers

<p>Prolyl hydroxylase domain proteins: Localization, regulation, function and their role in erythropoiesis (Review)</p>.

Hou Y et al.

Molecular Medicine Reports, 2026

PHD2 enzyme is an intracellular manganese sensor that initiates the homeostatic response against elevated manganese.

Gurol KC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Structure and Mechanism of a Viral Collagen Prolyl Hydroxylase.

Longbotham JE et al.

Biochemistry, 2015

Investigating the contribution of the active site environment to the slow reaction of hypoxia-inducible factor prolyl hydroxylase domain 2 with oxygen.

Tarhonskaya H et al.

The Biochemical Journal, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."